Varaico: Literature-Extracted Genetic Variants

ANKRD12

98 papers

RefSeq Summary

This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylas...

Pfam Domains

Ank_2aa 170–248UCSCAnkyrin repeats (3 copies)

Ankaa 250–282UCSCAnkyrin repeat

Gene Aliases

HGNC Name

ankyrin repeat domain 12

HGNC Alias Symbols

KIAA0874; FLJ20053; GAC-1; ANCO-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015208.5

p.D769G

c.2306A>G

Surrounding Variants

1 paper

NM_015208.5

p.D769fs

c.2305_2306fs

1 paper

NM_015208.5

p.I767R

c.2300T>G

1 paper

NM_015208.5

p.I767fs

c.2299_2300fs

1 paper

NM_015208.5

p.E775*

c.2323G>T

1 paper

NM_015208.5

p.S761F

c.2282C>T

1 paper

NM_015208.5

p.S761P

c.2281T>C

1 paper

NM_015208.5

p.E759V

c.2276A>T

2 papers

NM_015208.5

p.R751*

c.2251C>T

1 paper

NM_015208.5

p.N746insFs

c.2236_2237insC

1 paper

NM_015208.5

p.H740Y

c.2218C>T

1 paper

NM_015208.5

p.H814Q

c.2442T>A

1 paper

NM_015208.5

p.H814Q

c.2442T>G